Canonical Allele Identifier: CA347181775

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70959941C>T , CM000664.2:g.70959941C>T	GRCh38
NC_000002.11:g.71187071C>T , CM000664.1:g.71187071C>T	GRCh37
NC_000002.10:g.71040579C>T	NCBI36
NG_008016.1:g.29074C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.448C>T (ATP6V1B1) MANE Select	NP_001683.2:p.Gln150Ter
ENST00000234396.10:c.448C>T (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Gln150Ter
NM_001692.3:c.448C>T (ATP6V1B1)	NP_001683.2:p.Gln150Ter
ENST00000234396.8:c.448C>T (ATP6V1B1)	ENSP00000234396.4:p.Gln150Ter
ENST00000412314.5:c.448C>T (ATP6V1B1)	ENSP00000388353.1:p.Gln150Ter
ENST00000432098.1:c.88C>T (ATP6V1B1)	ENSP00000387599.1:p.Gln30Ter
ENST00000432098.2:n.614C>T (ATP6V1B1)
ENST00000432367.5:c.448C>T (ATP6V1B1)	ENSP00000405114.1:p.Gln150Ter
ENST00000432367.6:c.652C>T (VAX2)
ENST00000453130.1:c.143-11566G>A
ENST00000454446.5:c.499C>T (ATP6V1B1)	ENSP00000408361.1:p.Gln167Ter
ENST00000454446.6:c.448C>T (ATP6V1B1)	ENSP00000408361.2:p.Gln150Ter
ENST00000463380.1:n.549C>T (ATP6V1B1)
ENST00000495118.1:n.3C>T (ATP6V1B1)
ENST00000606025.5:c.476-17508G>A	ENSP00000475641.1:n.476-17508G>A
ENST00000646783.1:c.484C>T (VAX2)
XM_011532907.1:c.568C>T (ATP6V1B1)	XP_011531209.1:p.Gln190Ter
XM_011532907.2:c.568C>T (ATP6V1B1)	XP_011531209.1:p.Gln190Ter